ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.197G>A (p.Cys66Tyr) (rs1554430943)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Petrovsky Russian Research Center of Surgery, The Federal Agency for Scientific Organizations RCV000656723 SCV000777904 likely pathogenic Long QT syndrome 2 2018-05-18 criteria provided, single submitter clinical testing The p.C66Y variant in KCNH2 was observed in 1 family with long QT syndrome - both affected members (mother and daughter) carried p.C66Y variant in heterozygous state.

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